The molecular basis of inherited hemolytic anemia of Basenji dogs due to R-type pyruvate kinase deficiency [PDF]
, 1993 Pyruvate kinase (PK) deficiency is a naturally-occurring autosomal recessive disease of Basenji dogs. The glycolytic enzyme defect causes chronic hemolytic anemia and persistent reticulocytosis similar to the disease in human beings.
Whitney, Katharine Mason
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Erythroid Krüppel-Like Factor (KLF1):A Surprisingly Versatile Regulator of Erythroid Differentiation. [PDF]
Erythroid Krüppel-like factor (KLF1), first discovered in 1992, is an erythroid-restricted transcription factor (TF) that is essential for terminal differentiation of erythroid progenitors.
Bieker, Jim, Philipsen, Sjaak
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Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants [PDF]
BACKGROUND AND OBJECTIVES Hexokinase 1 (encoded by HK1) catalyzes the first step of glycolysis, the adenosine triphosphate-dependent phosphorylation of glucose to glucose-6-phosphate. Monoallelic HK1 variants causing a neurodevelopmental disorder (NDD)
Abela, Lucia +30 more
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Glucose-6-phosphate isomerase deficiency hemolysis. [PDF]
Quant Imaging Med Surg, 2023 Huang B +6 more
europepmc +1 more source
Exploring the association between glucose 6 phosphate dehydrogenase deficiency and its protective role in cancer [PDF]
, 2020 Julnar Usta; Nadine DarwicheBackground: Theglucose 6 ohosphate dehydrogenase (G6PD) enzyme is the first and rate-limiting enzyme in the oxidative arm of the Pentose Phosphate Pathway (PPP). People with G6PD deficiency are susceptible to hemolytic anemia,
Al Jurdi, Farah Omar
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Point Mutations That Reduce Erythrocyte Resistance to Oxidative Stress [PDF]
, 2012 Dmitriy Volosnikov, Elena Serebryakova
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Modelling and gene therapy for pyruvate kinase deficiency [PDF]
, 2018 La deficiencia en piruvato quinasa (PKD, por sus siglas en inglés) es la principal causa de anemia hemolítica no esferocítica. Es una enfermedad monogénica-recesiva que se origina por mutaciones en el gen PKLR.
López Manzaneda, Sergio
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Neonatal Thrombocytopenia as a Presenting Finding in de novo Pyruvate Kinase Deficiency. [PDF]
Neonatology, 2023 Dulmovits BM +5 more
europepmc +1 more source
Hereditary nonspherocytic hemolytic anemia caused by glucose-6-phosphate isomerase (GPI) deficiency in a Chinese patient: a case report. [PDF]
BMC Pediatr, 2022 Zu Y, Wang H, Lin W, Zou C.
europepmc +1 more source
Preclinical studies for the gene therapy treatment of pyruvate kinase deficiency [PDF]
, 2013 Tesis inédita de la Universidad Complutense de Madrid, Facultad de Ciencias Biológicas, Departamento de Bioquímica y Biología Molecular, leída el 16/09/2013Sección Deptal. de Bioquímica y Biología Molecular (Biológicas)Fac.
García Gómez, María
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